Phenylketonuria is a rare metabolic disease that results from the absence or near-absence activity of the enzyme phenylalanine hydroxylase, which metabolizes the amino acid phenylalanine to tyrosine in the body. Accumulation of phenylalanine in the brain causes brain damage that leads to mental retardation, neurological complications, and movement disorders.
The study is inherited autosomal recessively. The basis of treatment is a low-protein diet with dietary supplements of aminoxlin without phenylalanine and with appropriate substitutes for micro and macronutrients needed for different ages. A low-protein diet regulates the level of phenylalanine in the blood. This is especially important in childhood.
In the study, which will basically consist of theoretical, experimental and numerical work, the investigators will limit to a specific population, i.e. to adult patients with phenylketonuria. The research is intended to prove the hypothesis that with proper nutritional treatment of phenylketonuria in adulthood, we can have a positive effect on the patient's well-being, better blood results and improved lifestyle.
The investigators intend to test this hypothesis by implementing a complex, multidisciplinary project that will include a comprehensive treatment of adult PKU patients. This will be based on a multidisciplinary approach with the inclusion of medical and nutritional treatment. As part of the project, the investigators, among other things, create questionnaires and analyze food diaries related to the mentioned areas.
Using various statistical techniques, the investigators analyze the impact of individual factors on the success of achieving the objectives of the proposed study. The original contribution to science will be the nutritional treatment of adult patients with phenylketonuria in Slovenia and the consequent reduction of health complications in adulthood of patients with phenylketonuria.
The study will include subjects over the age of 18 who have PKU or hyperphenylalaninemia and are expected to have dietary treatment according to expert recommendations. A prerequisite for entering the investigation will be a signed consent to participate in the investigation and the ability of the participant to have a good understanding of the content of the research and to fully participate in the interventional dietary process.
The investigators will not include adult patients who do not manage their diet on their own and need caregivers due to limited cognitive abilities (patients with late-diagnosed disease and neurological consequences of the disease) or who do not want to sign an informed consent.
Parallel
Ultrasound of the jugular veins
Diagnostic testUltrasound of the jugular veins to assess the thickness of the carotid intima media
addition of phenylalanine-free protein substitutes
Dietary supplementaddition of phenylalanine-free protein substitutes for sufficient daily intake of essential amino acids and other vitamins and minerals and nutritional plan
assess the differences between the group of patients with questionnaire
Use a questionnaire in patients to assess the differences between the group of patients on dietary treatment and the group of patients who discontinued treatment: demographic characteristics (gender, age, education, source of income, marital status), comorbidities or treatments, smoking , sleep disorders, self - assessment of physical activity, self - assessment of health.
Determination of the effectiveness of the dietary intervention of individual nutrition counseling for reduced Phe intake in the blood and the balance of nutrients and elements in the diet
Phe intake in the blood (µmol/L)
Comparison of the assessment of risk factors for atherogenesis
ultrasound of the jugular veins to assess the thickness of the carotid intima media (percent)
Assessment of risk factors for atherogenesis before and after dietary intervention 1
Determine the change in body mass index (kg/m²)
Assessment of risk factors for atherogenesis before and after dietary intervention 2
waist circumference (cm)
Assessment of risk factors for atherogenesis before and after dietary intervention 3
blood pressure (mm Hg)
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